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Items: 1 to 20 of 129

1.

Value of Strain Imaging and Maximal Oxygen Consumption in Patients With Hypertrophic Cardiomyopathy.

Moneghetti KJ, Stolfo D, Christle JW, Kobayashi Y, Finocchiaro G, Sinagra G, Myers J, Ashley EA, Haddad F, Wheeler MT.

Am J Cardiol. 2017 Jul 17. pii: S0002-9149(17)31132-3. doi: 10.1016/j.amjcard.2017.06.070. [Epub ahead of print]

PMID:
28802509
2.

Navigating Genetic and Phenotypic Uncertainty in Left Ventricular Noncompaction.

Rhee JW, Grove ME, Ashley EA.

Circ Cardiovasc Genet. 2017 Aug;10(4). pii: e001857. doi: 10.1161/CIRCGENETICS.117.001857. No abstract available.

PMID:
28798026
3.

Long-read genome sequencing identifies causal structural variation in a Mendelian disease.

Merker JD, Wenger AM, Sneddon T, Grove M, Zappala Z, Fresard L, Waggott D, Utiramerur S, Hou Y, Smith KS, Montgomery SB, Wheeler M, Buchan JG, Lambert CC, Eng KS, Hickey L, Korlach J, Ford J, Ashley EA.

Genet Med. 2017 Jun 22. doi: 10.1038/gim.2017.86. [Epub ahead of print]

PMID:
28640241
4.

Accuracy in Wrist-Worn, Sensor-Based Measurements of Heart Rate and Energy Expenditure in a Diverse Cohort.

Shcherbina A, Mattsson CM, Waggott D, Salisbury H, Christle JW, Hastie T, Wheeler MT, Ashley EA.

J Pers Med. 2017 May 24;7(2). pii: E3. doi: 10.3390/jpm7020003.

5.

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.

Wang J, Al-Ouran R, Hu Y, Kim SY, Wan YW, Wangler MF, Yamamoto S, Chao HT, Comjean A, Mohr SE; UDN, Perrimon N, Liu Z, Bellen HJ.

Am J Hum Genet. 2017 Jun 1;100(6):843-853. doi: 10.1016/j.ajhg.2017.04.010. Epub 2017 May 11.

PMID:
28502612
6.

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network.

Spillmann RC, McConkie-Rosell A, Pena L, Jiang YH; Undiagnosed Diseases Network, Schoch K, Walley N, Sanders C, Sullivan J, Hooper SR, Shashi V.

Orphanet J Rare Dis. 2017 Apr 17;12(1):71. doi: 10.1186/s13023-017-0623-3.

7.

Delivering Clinical Grade Sequencing and Genetic Test Interpretation for Cardiovascular Medicine.

Harper AR, Parikh VN, Goldfeder RL, Caleshu C, Ashley EA.

Circ Cardiovasc Genet. 2017 Apr;10(2). pii: e001221. doi: 10.1161/CIRCGENETICS.116.001221. No abstract available.

PMID:
28411191
8.

A comparison of methods for determining the ventilatory threshold: implications for surgical risk stratification.

Vainshelboim B, Rao S, Chan K, Lima RM, Ashley EA, Myers J.

Can J Anaesth. 2017 Jun;64(6):634-642. doi: 10.1007/s12630-017-0862-8. Epub 2017 Apr 5.

PMID:
28382529
9.

HapIso: An Accurate Method for the Haplotype- Specific Isoforms Reconstruction From Long Single-Molecule Reads.

Mangul S, Yang TH, Hormozdiari F, Dainis AM, Tseng E, Ashley EA, Zelikovsky A, Eskin E.

IEEE Trans Nanobioscience. 2017 Mar;16(2):108-115. doi: 10.1109/TNB.2017.2675981. Epub 2017 Mar 17.

PMID:
28328508
10.

Effect of Moderate-Intensity Exercise Training on Peak Oxygen Consumption in Patients With Hypertrophic Cardiomyopathy: A Randomized Clinical Trial.

Saberi S, Wheeler M, Bragg-Gresham J, Hornsby W, Agarwal PP, Attili A, Concannon M, Dries AM, Shmargad Y, Salisbury H, Kumar S, Herrera JJ, Myers J, Helms AS, Ashley EA, Day SM.

JAMA. 2017 Apr 4;317(13):1349-1357. doi: 10.1001/jama.2017.2503. Erratum in: JAMA. 2017 May 23;317(20):2134.

PMID:
28306757
11.

Informed Consent.

Grady C, Cummings SR, Rowbotham MC, McConnell MV, Ashley EA, Kang G.

N Engl J Med. 2017 Mar 2;376(9):856-867. doi: 10.1056/NEJMra1603773. Review. No abstract available.

12.

Orexin: a Missing Link Between Sleep Disorders and Heart Failure?

Pan S, Cabral CS, Ashley EA, Perez MV.

Curr Heart Fail Rep. 2017 Apr;14(2):100-105. doi: 10.1007/s11897-017-0322-3. Review.

PMID:
28215031
13.

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.

Ramoni RB, Mulvihill JJ, Adams DR, Allard P, Ashley EA, Bernstein JA, Gahl WA, Hamid R, Loscalzo J, McCray AT, Shashi V, Tifft CJ; Undiagnosed Diseases Network, Wise AL.

Am J Hum Genet. 2017 Feb 2;100(2):185-192. doi: 10.1016/j.ajhg.2017.01.006.

14.

Next-Generation Sequencing in Cardiovascular Disease: Present Clinical Applications and the Horizon of Precision Medicine.

Parikh VN, Ashley EA.

Circulation. 2017 Jan 31;135(5):406-409. doi: 10.1161/CIRCULATIONAHA.116.024258. No abstract available.

PMID:
28137961
15.

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.

Zastrow DB, Zornio PA, Dries A, Kohler J, Fernandez L, Waggott D, Walkiewicz M, Eng CM, Manning MA, Farrelly E; Undiagnosed Diseases Network, Fisher PG, Ashley EA, Bernstein JA, Wheeler MT.

Cold Spring Harb Mol Case Stud. 2017 Jan;3(1):a001388. doi: 10.1101/mcs.a001388.

16.

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG; Undiagnosed Diseases Network, Yamamoto S, Adams DR, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MC.

Am J Hum Genet. 2017 Jan 5;100(1):128-137. doi: 10.1016/j.ajhg.2016.11.018. Epub 2016 Dec 22.

17.

Feasibility of Obtaining Measures of Lifestyle From a Smartphone App: The MyHeart Counts Cardiovascular Health Study.

McConnell MV, Shcherbina A, Pavlovic A, Homburger JR, Goldfeder RL, Waggot D, Cho MK, Rosenberger ME, Haskell WL, Myers J, Champagne MA, Mignot E, Landray M, Tarassenko L, Harrington RA, Yeung AC, Ashley EA.

JAMA Cardiol. 2017 Jan 1;2(1):67-76. doi: 10.1001/jamacardio.2016.4395.

PMID:
27973671
18.

Deep Learning Automates the Quantitative Analysis of Individual Cells in Live-Cell Imaging Experiments.

Van Valen DA, Kudo T, Lane KM, Macklin DN, Quach NT, DeFelice MM, Maayan I, Tanouchi Y, Ashley EA, Covert MW.

PLoS Comput Biol. 2016 Nov 4;12(11):e1005177. doi: 10.1371/journal.pcbi.1005177. eCollection 2016 Nov.

19.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F.

Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29.

20.

Early somatic mosaicism is a rare cause of long-QT syndrome.

Priest JR, Gawad C, Kahlig KM, Yu JK, O'Hara T, Boyle PM, Rajamani S, Clark MJ, Garcia ST, Ceresnak S, Harris J, Boyle S, Dewey FE, Malloy-Walton L, Dunn K, Grove M, Perez MV, Neff NF, Chen R, Maeda K, Dubin A, Belardinelli L, West J, Antolik C, Macaya D, Quertermous T, Trayanova NA, Quake SR, Ashley EA.

Proc Natl Acad Sci U S A. 2016 Oct 11;113(41):11555-11560. Epub 2016 Sep 28.

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